ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828418337
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65222
ClinVar RCV Id:
RCV000055442
RCV002051805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Leu733Val
CA016903
NM_001370405.1:c.2197C>G